Canonical Allele Identifier: CA358950488
Gene: CYP4V2 HGNC NCBI
KLKB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186209164T>A , CM000666.2:g.186209164T>A GRCh38
NC_000004.11:g.187130318T>A , CM000666.1:g.187130318T>A GRCh37
NC_000004.10:g.187367312T>A NCBI36
NG_007965.1:g.22645T>A
NG_012095.2:g.5186T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.1297T>A (CYP4V2) MANE Select ENSP00000368079.4:p.Phe433Ile
ENST00000378802.4:c.1297T>A (CYP4V2) ENSP00000368079.4:p.Phe433Ile
ENST00000502665.1:n.532T>A (CYP4V2)
ENST00000507209.5:n.5995T>A (CYP4V2)
ENST00000511608.5:c.93T>A (KLKB1)
ENST00000513354.5:n.387T>A (CYP4V2)
NM_207352.3:c.1297T>A (CYP4V2) NP_997235.3:p.Phe433Ile
XM_005262935.2:c.1294T>A (CYP4V2) XP_005262992.1:p.Phe432Ile
XM_006714184.2:c.901T>A (CYP4V2) XP_006714247.1:p.Phe301Ile
XM_005262935.4:c.1294T>A (CYP4V2) XP_005262992.1:p.Phe432Ile
XM_017008037.1:c.901T>A (CYP4V2) XP_016863526.1:p.Phe301Ile
NM_207352.4:c.1297T>A (CYP4V2) MANE Select NP_997235.3:p.Phe433Ile